A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570650



Internal ID18698848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:254254..381137hg38UCSC Ensembl
Innerchr6:254254..381137hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38126884
hg19126884
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1701e212
Supporting Variantsessv9777551, essv9777556, essv9777557, essv9777549, essv9777558, essv9777559
Samples401792KR, 400717BD, 401326LI, 401778CB, 401428LD, 400173KP
Known GenesDUSP22
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3570650
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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